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Points for Reflection

1.Where a condition is rare, it could be argued that it is unreasonable to expect a health professional to be alert for the possibility of an individual having that condition. Against this backdrop, the issue of patient (or carer) as expert gains more precedence and a parent who feels something ‘isn’t right’ should be listened to. When a diagnosis is made, the health professional and patient/carer as partners in care should be able to learn together.

2.How would you have approached the care of this family? Would you have been able to pass on information about the relevant support group? Would you know where to go to find out that sort of information? Do you feel that with so much information readily available now, it is appropriate that patients/carers should take responsibility for accessing this themselves?

Activities

Go to the AKU Society web site and look up the ‘What is AKU’ page. On the basis of what you read there, what additional information would you give parent's about the prognosis for their children? What specific lifestyle advice would you give?

Quotes

"When the results came in, our GP told us not to worry, that the disease wasn't very serious and recommended that we don't go and do a search for Alkaptonuria on the internet because it would make us worried."

"Thanks to the internet, we’re also in touch with a number of people around the world who have AKU or whose children do. This means that we can share information about how the disease evolves, tips on how to deal with it and ideas on how to raise awareness. I suspect that people with rare disorders and their parents were much more isolated in the days before new media."

Further information

The AKU Society: http://www.alkaptonuria.info/

US National Library of Medicine, Genetics Home Reference: Alkaptonuria


Location: The Stories
Transcript

You can download the full transcript here

A parent’s story: the need for clear information, not false reassurance
Alkaptonuria, an autosomal recessive condition

My children have a rare and serious genetic disorder called alkaptonuria (AKU for short). AKU is caused by a missing enzyme that leads to the accumulation of a substance known as homogentisic acid, which leads to cartilage damage, heart problems and a host of other health issues.

We found out about AKU shortly after the birth of our first child. The baby’s nappies were turning red and we were worried that this might be due to blood in the urine. The emergency doctor we contacted tested for blood, but did not find any. The doctor said it might be because we were eating red cabbage and that this was going through the breast milk into the child’s urine.

We weren’t very impressed with this explanation and went to see our GP, who was much more thorough in approach. The GP had urine tests done for a variety of disorders and our child was diagnosed with AKU.

Going through the testing period was quite worrying although our GP was generally good. The first doctor who came round (the emergency doctor) was quite useless and basically wouldn't take it seriously. But our GP did.

When the results came in, our GP told us not to worry, that the disease wasn't very serious and recommended that we don't go and do a search for alkaptonuria on the internet because it would make us worried. However, we did anyway and we obtained in that way much more information than our GP gave us. We were then put in a touch with a genetics and metabolics disorder specialist at a Children’s Hospital, who explained all about the disease.

One major concern we have with the medical profession in general is its tendency to treat most people like children. Doctors very rarely give extensive explanations about things and tell us not to worry but without explaining why.

We didn't get any support afterwards. We just had to wait for an appointment with the specialist.

Overall, I think the delivery of the news was what I'd generally expect from the NHS - under average and with little attempt to explain in detail. It would be good for doctors to have training in more holistic approaches to patient therapy. Learning from the approaches used in alternative medicine such as homeopathy, which has a much more in-depth focus on the whole of the human person, would be good.

Later, these questions were asked:

Did you get any support from genetic nurses, or any other nurses at the time you had the diagnosis?

No we didn’t!

I think any extra support would have helped. For me, it was particularly important to have a detailed and clear explanation of the illness and its causes, but the doctors were only prepared to give us a few minutes maximum. We had to research it all on the internet, which sometimes led us to complex research papers.

So if nurses and doctors could spend time, even just half an hour, taking us through the basics of what causes the genetic disease and the current state of research that would help.

However, it eventually became apparent that we were becoming more up to date with the progress of research than our doctors were.

We were obviously very worried, but we came across the Alkaptonuria Society, and it has been very helpful.

The difficulty with a rare disease such as AKU is the lack of awareness among the medical profession about it and the reluctance of pharmaceutical companies to fund research. Fortunately, some research is happening at the National Institutes of Health in the US, which we hope may result in the development of a drug that will reduce the harm caused by AKU.

Thanks to the internet, we’re also in touch with a number of people around the world who have AKU or whose children do. This means that we can share information about how the disease evolves, tips on how to deal with it and ideas on how to raise awareness. I suspect that people with rare disorders and their parents were much more isolated in the days before new media.